Yang(X),Liu(H),Xu(K),He(D),Cheng(S),Pan(C)... Calcif Tissue Int 2026-03-24

...CHKB and glycerol 3-phosphate) enriched in the overlapping pathway-glycerophospholipid metabolism. Moreover, MR detected...

Wu(S),Yi(J),Chen(X),Peng(L) Naunyn Schmiedebergs Arch P... 2026-07-14

...CHKB, PCYT1B, and PLA2G4A. Drug prediction and molecular docking suggested that metformin and quercetin may biologically...

Luo(M),Gao(J),Jiang(M),Zhang(Y),Long(D),Ya... Biochim Biophys Acta Mol Ba... 2026-08-00

...CHKB) was identified as a key upregulated gene strongly associated with sphingolipid metabolism. This finding was valida...

Aksu-Mengeş(E),Akpınar(G),Kasap(M),Balcı-H... BMC Neurol 2026-07-14

...CHKB) gene. Although the genetic basis and morphological hallmarks of Megaconial CMD have been well characterized, the m...

Tavasoli(M),Alkandari(M),Dorighello(G),Dev... Mol Ther Adv 2026-09-10

...CHKB under control of a constitutive and ubiquitous promoter (AAV9-CHKB). The AAV9-CHKB-treated mice were biochemically ...

Basu(A),Suthar(R),Pandey(A),Bhatia(P),Pani... J Child Neurol 2026-05-00

...CHKB-RD (5%). Motor and cognitive outcomes were was assessed in 33 (78%) children during follow-up, 45% (n = 19) were ab...

Dong(Y),Liu(W),Cheng(J),Li(Y),Huang(Y),Zhe... Phytomedicine 2025-10-00

...CHKB, CYP19A1, CYP1A1, CYP1A2, CYP1B1, DPYS, NOS2, PDE5A, PNLIP, PTGS2, XDH) along with their associated metabolic pathw...

Castro-Gago(Manuel),Dacruz-Alvarez(David),... Brain Dev 2016-10-05

...CHKB: NM_005198.4:c.810T>A, p.Tyr270(∗)). We describe here the second Spanish patient whit mutation in CHKB gene, who de...

Haliloglu(Goknur),Talim(Beril),Sel(Cigdem ... J Inherit Metab Dis 2016-09-20

...CHKB) gene defects has been characterized by intellectual disability, autistic features, ichthyosis-like skin changes, a...

Oliveira(Jorge),Negrão(Luís),Fineza(Isabel... J Hum Genet 2016-02-29

...CHKB) gene. Inspection of sequence alignments ultimately identified the causal variant (CHKB:c.1031+3G>C). This splice s...